MedTrace Logo

Non-invasive Prenatal Diagnosis of Monogenic Disorders by Linked-reads Technology

NCT03622892 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 75

Last updated 2020-01-27

No results posted yet for this study

Summary

Description of the presence of cell-free fetal DNA in maternal plasma allowed the possibility of non-invasive prenatal diagnosis. Whereas detection of paternally-inherited alleles is straightforward and being quickly implemented in routine, detection of maternally-inherited alleles remains challenging.

To date, the main approach that is being developped, called Relative Haplotype Dosage Analysis, relies on the identification of an allelic imbalance between the mother's wild-type and mutant alleles, relative to the fetal's contribution. This approach therefore requires the study of a propositus to identify the morbid haplotype, which is not always possible in the context of an ongoing pregnancy.

In this study, we aim to evaluate the contribution of new technologies, such as linked-read Sequencing, to allow direct identification of parental haplotype in the context of non-invasive prenatal diagnosis.

Conditions

Sponsors & Collaborators

  • University Hospital, Brest

    lead OTHER

Principal Investigators

  • Claude Ferec, MD, PhD · CHU de Brest

Eligibility

Min Age
18 Years
Max Age
55 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2018-10-18
Primary Completion
2021-10-18
Completion
2021-10-18

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03622892 on ClinicalTrials.gov